NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter) AND Combined immunodeficiency due to partial RAG1 deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253457.1
Allele description [Variation Report for NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)]
NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter)
Condition(s)
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1-(2-chloroethyl)-1-nitrosourea [Supplementary Concept]
1-(2-chloroethyl)-1-nitrosourea [Supplementary Concept]Date introduced: January 1, 1978<br/>MeSH
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C017139 (1)
MeSH
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Sporidesmium pyriformatum strain MFLUCC 15-0627 translation elongation factor 1-...
Sporidesmium pyriformatum strain MFLUCC 15-0627 translation elongation factor 1-alpha (EF-1a) gene, partial cdsgi|1376281450|gb|MF135663.1|Nucleotide
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Sporidesmiella hyalosperma strain S-1320 internal transcribed spacer 1, partial ...
Sporidesmiella hyalosperma strain S-1320 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1624173668|gb|MK828689.1|Nucleotide
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UNVERIFIED: Sporidesmiella hyalosperma strain MFLUCC 18-1013 translation elongat...
UNVERIFIED: Sporidesmiella hyalosperma strain MFLUCC 18-1013 translation elongation factor 1-alpha-like gene, partial sequence; mitochondrialgi|1996370396|gb|MW396654.1|Nucleotide
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Last Updated: Apr 23, 2022